NA11687
DNA from Somatic cell hybrid
Description:
ADDITIONAL HUMAN/MOUSE SOMATIC CELL HYBRIDS
Repository
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NIGMS Human Genetic Cell Repository
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Subcollection |
Hybrids |
Quantity |
0.050mg |
Quantitation Method |
Please see our FAQ |
Cell Type
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Somatic cell hybrid
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Transformant
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Untransformed
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Sample Source
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DNA from Somatic cell hybrid
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Family Member
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4
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Confirmation
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Karyotypic analysis and Southern blot hybridization
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ISCN
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Human/mouse hybrid retaining human chromosome #4
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Remarks
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IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
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GENE MAPPING & DOSAGE STUDIES - CHROMOSOME 4 |
DNA from this somatic cell hybrid gave positive results in Southern blot hybridization analyses with probes for 4p16.2p15.1, D4S20, and 4q21q23, ADH3. |
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GENE MAPPING & DOSAGE STUDIES - CHROMOSOME 5 |
DNA from this somatic cell hybrid gave a negative result in Southern blot hybridization analysis with a probe for 5pterp15.3, D5S10. |
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GENE MAPPING & DOSAGE STUDIES - CHROMOSOME 12 |
DNA from this somatic cell hybrid gave negative results in Southern blot hybridization analyses with probes for 12q14q24.1, D12S7, and 12p13, TPI1. |
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Remarks |
Line HA(4)A; produced by the transfer of neo-marked human chromosomes into mouse A9 cells by microcell-mediated chromosome transfer; grown in medium containing G418; retains human chromosome #4 in 100% of cells |
Kolpa HJ, Creamer KM, Hall LL, Lawrence JB, SAF-A mutants disrupt chromatin structure through dominant negative effects on RNAs associated with chromatin Mammalian genome : official journal of the International Mammalian Genome Society: 2021 |
PubMed ID: 34859278 |
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Zeng W, Chen YY, Newkirk DA, Wu B, Balog J, Kong X, Ball AR, Zanotti S, Tawil R, Hashimoto N, Mortazavi A, van der Maarel SM, Yokomori K, Genetic and epigenetic characteristics of FSHD-associated 4q and 10q D4Z4 that are distinct from non-4q/10q D4Z4 homologs Human mutation35:998-1010 2013 |
PubMed ID: 24838473 |
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Lemmers RJ, van der Vliet PJ, Klooster R, Sacconi S, CamaƱo P, Dauwerse JG, Snider L, Straasheijm KR, Jan van Ommen G, Padberg GW, Miller DG, Tapscott SJ, Tawil R, Frants RR, van der Maarel SM.
, A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy. Science329(5999):1650-3 2010 |
PubMed ID: 20724583 |
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Coskun AK, van Maanen M, Nguyen V, Sutton RE, Human chromosome 2 carries a gene required for production of infectious human immunodeficiency virus type 1 Journal of virology80:3406-15 2006 |
PubMed ID: 16537608 |
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Lemmers RJ, Van Overveld PG, Sandkuijl LA, Vrieling H, Padberg GW, Frants RR, van der Maarel SM, Mechanism and timing of mitotic rearrangements in the subtelomeric D4Z4 repeat involved in facioscapulohumeral muscular dystrophy. Am J Hum Genet75(1):44-53 2004 |
PubMed ID: 15154112 |
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Rijkers T, Deidda G, van Koningsbruggen S, van Geel M, Lemmers RJ, van Deutekom JC, Figlewicz D, Hewitt JE, Padberg GW, Frants RR, van der Maarel SM, FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients. J Med Genet41(11):826-36 2004 |
PubMed ID: 15520407 |
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Tam R, Smith KP, Lawrence JB, The 4q subtelomere harboring the FSHD locus is specifically anchored with peripheral heterochromatin unlike most human telomeres. J Cell Biol167(2):269-79 2004 |
PubMed ID: 15504910 |
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Jiang G, Yang F, Van Overveld PG, Vedanarayanan V, Van Der Maarel S, Ehrlich M, Testing the Position-Effect Variegation Hypothesis for Facioscapulohumeral Muscular Dystrophy By Analysis of Histone Modification and Gene Expression in Subtelomeric 4q. Hum Mol GenetEpub ahead of print:269-79 2003 |
PubMed ID: 14506132 |
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Soltysik-Espanola M, Rogers RA, Jiang S, Kim TA, Gaedigk R, White RA, Avraham H, Avraham S, Characterization of Mayven, a novel actin-binding protein predominantly expressed in brain. Mol Biol Cell10:2361-75 1999 |
PubMed ID: 10397770 |
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Davies JP, Cotter PD, Ioannou YA, Cloning and mapping of human Rab7 and Rab9 cDNA sequences and identification of a Rab9 pseudogene. Genomics41:131-4 1997 |
PubMed ID: 9126495 |
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Anderson DM, Johnson L, Glaccum MB, Copeland NG, Gilbert DJ, Jenkins NA, Valentine V, Kirstein MN, Shapiro DN, Morris SW, et al, Chromosomal assignment and genomic structure of Il15. Genomics25:701-6 1995 |
PubMed ID: 7759105 |
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